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modify clinvar star assignment for no interpretation variants #139

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merged 2 commits into from
Aug 22, 2023

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rjcorb
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@rjcorb rjcorb commented Aug 22, 2023

Purpose/implementation Section

What feature is being added or bug is being addressed?

Closes #138. This PR assigns ClinVar variants with no_interpretation_for_single_variant as zero stars

What was your approach?

What GitHub issue does your pull request address?

#138

Directions for reviewers. Tell potential reviewers what kind of feedback you are soliciting.

Which areas should receive a particularly close look?

Please check new code logic.

Is there anything that you want to discuss further?

I also updated another line of code where final calls are chosen based on whether clinVar or intervar was used. Before it was only taking intervar calls when Stars == 0, but should now also consider variants with NA stars.

Documentation Checklist

@@ -419,7 +419,7 @@ master_tab <- master_tab %>%
evidenceBP = coalesce(as.double(evidenceBP.x, evidenceBP.y)),
Intervar_evidence = coalesce(`InterVar: InterVar and Evidence.x`, `InterVar: InterVar and Evidence.y`),
# replace second final call with the second one because we did not use interVar results
final_call.x = if_else(Stars == "0", final_call.y, final_call.x)
final_call.x = if_else(Stars == "0" | is.na(Stars), final_call.y, final_call.x)
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good catch!

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@naqvia naqvia left a comment

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Logic makes sense to me!

@rjcorb rjcorb merged commit 7e5216e into main Aug 22, 2023
@rjcorb rjcorb deleted the rjcorb/138-update-zero-star-criteria branch August 22, 2023 17:25
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Bug: ClinVar entries with no assertion for individual variant have Stars==NA
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